Myeloid Dysplasia in Familial 3-Methylglutaconic Aciduria
Myeloid Dysplasia in Familial 3-Methylglutaconic Aciduria
复制标题
家族性 3-甲基戊二酸尿症中的骨髓发育不良
DOI：
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发表时间：
2006
期刊：
影响因子：
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通讯作者：
H. Mandel
中科院分区：
文献类型：
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作者：
M. Haimi;R. Elhasid;R. Gershoni;S. Izraeli;R. Wanders;H. Mandel
一个家族报告有四名成员患有神经退行性疾病和3-甲基戊烯二酸尿症。两个兄弟姐妹发展为血小板减少症，预示着骨髓增生异常综合征;在一个患者中，它演变为骨髓中的7号单体性急性髓性白血病。血液学并发症迄今尚未在其他3-甲基戊烯二酸尿症病例中报告，因此被认为是一种新的疾病实体。这个家族增加了孟德尔疾病遗传异质性的额外证据，其中原发突变可能具有增变效应，可能通过获得性染色体变化引起骨髓增生异常综合征和急性髓性白血病。
A kindred is reported with four members affected with neurodegenerative disorder and 3-methylglutaconic aciduria. Two siblings developed thrombocytopenia heralding a myelodysplastic syndrome; in one patient it evolved into acute myeloid leukemia with monosomy 7 in the marrow. The hematologic complications have hitherto not been previously reported in other cases of 3-methylglutaconic aciduria and are thus thought to represent a new disease entity. This family adds additional evidence to the genetic heterogeneity of Mendelian disorders in which the primary mutation may have a mutator effect that could give origin to myelodysplastic syndrome and acute myeloid leukemia through acquired chromosomal changes.
影响因子：
9.8
作者：
Bykhovskaya, Y;Casas, K;Fischel-Ghodsian, N
通讯作者：
Fischel-Ghodsian, N